Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10015 | 30268;30269;30270 | chr2:178704327;178704326;178704325 | chr2:179569054;179569053;179569052 |
| N2AB | 9698 | 29317;29318;29319 | chr2:178704327;178704326;178704325 | chr2:179569054;179569053;179569052 |
| N2A | 8771 | 26536;26537;26538 | chr2:178704327;178704326;178704325 | chr2:179569054;179569053;179569052 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1178694077  |
0.211 | 1.0 | None | 0.677 | 0.675 | 0.78927792584 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1178694077 |
0.211 | 1.0 | None | 0.677 | 0.675 | 0.78927792584 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1178694077 |
0.211 | 1.0 | None | 0.677 | 0.675 | 0.78927792584 | gnomAD-4.0.0 | 4.05983E-06 | None | None | None | None | I | None | 5.24384E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.2049E-06 | 0 | 0 |
| P/S | rs779333871 |
-0.213 | 1.0 | None | 0.686 | 0.658 | 0.550503487074 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/S | rs779333871 |
-0.213 | 1.0 | None | 0.686 | 0.658 | 0.550503487074 | gnomAD-4.0.0 | 7.95434E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85752E-06 | 5.73082E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4904 | ambiguous | 0.4079 | ambiguous | -1.124 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| P/C | 0.9794 | likely_pathogenic | 0.9773 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| P/D | 0.9425 | likely_pathogenic | 0.917 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| P/E | 0.8586 | likely_pathogenic | 0.8 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| P/F | 0.9829 | likely_pathogenic | 0.9798 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| P/G | 0.9067 | likely_pathogenic | 0.8861 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| P/H | 0.8631 | likely_pathogenic | 0.8315 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | I |
| P/I | 0.9551 | likely_pathogenic | 0.9482 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| P/K | 0.9133 | likely_pathogenic | 0.8879 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| P/L | 0.7114 | likely_pathogenic | 0.6783 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| P/M | 0.9492 | likely_pathogenic | 0.9366 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| P/N | 0.9443 | likely_pathogenic | 0.9255 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | I |
| P/Q | 0.7841 | likely_pathogenic | 0.7302 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| P/R | 0.7976 | likely_pathogenic | 0.7581 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| P/S | 0.7005 | likely_pathogenic | 0.6333 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| P/T | 0.7385 | likely_pathogenic | 0.681 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| P/V | 0.901 | likely_pathogenic | 0.8863 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| P/W | 0.986 | likely_pathogenic | 0.9843 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| P/Y | 0.9701 | likely_pathogenic | 0.965 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.